Mutagenetix > Incidental Mutations

Incidental Mutation 'R7303:Lrguk'

567092

Institutional Source

Beutler Lab

Gene Symbol

Lrguk

Ensembl Gene

ENSMUSG00000056215

Gene Name

leucine-rich repeats and guanylate kinase domain containing

Synonyms

4921528H16Rik

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.101) question?

Stock #

R7303 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

34029448-34134034 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 34029476 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Isoleucine at position 7 (N7I)

Ref Sequence

ENSEMBL: ENSMUSP00000065146 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000070189] [ENSMUST00000101564] [ENSMUST00000228187]

AlphaFold

Q9D5S7

Predicted Effect

probably benign
Transcript: ENSMUST00000070189
AA Change: N7I

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000065146
Gene: ENSMUSG00000056215
AA Change: N7I

Domain	Start	End	E-Value	Type
coiled coil region	75	113	N/A	INTRINSIC
LRR	148	170	2.69e2	SMART
LRR	236	258	1.86e2	SMART
LRR	279	301	1.99e0	SMART
LRR	326	349	1.58e2	SMART
GuKc	414	600	6.84e-18	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000101564
AA Change: N7I

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000099100
Gene: ENSMUSG00000056215
AA Change: N7I

Domain	Start	End	E-Value	Type
coiled coil region	75	113	N/A	INTRINSIC
Pfam:LRR_1	150	170	9e-4	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000228187
AA Change: N7I

PolyPhen 2 Score 0.360 (Sensitivity: 0.90; Specificity: 0.89)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930432K21Rik	G	C	8: 84,161,233	G71A	probably benign	Het
Abca3	T	G	17: 24,398,521	L1064R	possibly damaging	Het
Abca7	A	T	10: 80,014,988	D2051V	probably benign	Het
Abcb5	T	A	12: 118,911,560	I626F	probably damaging	Het
Abcg5	A	G	17: 84,670,346	S333P	probably damaging	Het
Abl2	T	C	1: 156,641,250	S695P	probably benign	Het
Aen	C	T	7: 78,902,456	P55S	possibly damaging	Het
Afg3l1	G	T	8: 123,501,269	A598S	probably damaging	Het
Aldh16a1	A	T	7: 45,147,904	L160Q	probably damaging	Het
Ang	A	T	14: 51,101,516	H38L	probably benign	Het
Ankar	A	T	1: 72,659,033	I954N	probably benign	Het
Aox2	A	T	1: 58,334,765	K862*	probably null	Het
Cad	T	C	5: 31,060,213		probably null	Het
Cc2d2b	A	T	19: 40,808,994	Y740F	unknown	Het
Ccdc182	T	C	11: 88,294,216	Y41H	probably benign	Het
Chd9	A	G	8: 91,051,904	R2848G	unknown	Het
Chrna6	A	T	8: 27,406,991	L286*	probably null	Het
Cracr2b	A	G	7: 141,463,202		probably benign	Het
Fam184b	C	T	5: 45,542,226		probably null	Het
Fam208a	A	G	14: 27,471,852	E1003G	probably damaging	Het
Flnc	T	C	6: 29,460,850	S2647P	probably benign	Het
Ftsj3	T	C	11: 106,254,680	D76G	probably damaging	Het
Fxyd1	T	A	7: 31,054,318	M17L	probably benign	Het
Golim4	G	A	3: 75,878,053	S677L	probably damaging	Het
Gpr149	A	G	3: 62,595,070	V455A	possibly damaging	Het
H2-Q1	C	A	17: 35,321,336	S132R	probably benign	Het
H2-Q7	A	G	17: 35,440,061	I163V	probably benign	Het
Herc1	A	T	9: 66,450,816	D2393V	possibly damaging	Het
Hmgb2	A	G	8: 57,512,728	K44E	possibly damaging	Het
Itgad	A	G	7: 128,190,179	D605G	probably benign	Het
Kbtbd12	G	T	6: 88,614,112	F16L	unknown	Het
Klhl23	T	C	2: 69,824,701	I305T	probably benign	Het
Lrp5	A	G	19: 3,591,774	L1396P	probably damaging	Het
Mapkapk5	T	C	5: 121,540,574	E13G	probably benign	Het
Mark3	T	C	12: 111,655,536	V704A	probably damaging	Het
Mast2	A	G	4: 116,308,311	S1303P	possibly damaging	Het
Mcm2	T	C	6: 88,887,946	D516G	probably damaging	Het
Mon2	A	T	10: 123,038,459		probably null	Het
Mrc2	T	A	11: 105,325,803	N139K	probably damaging	Het
Myh14	C	T	7: 44,611,701	E1789K	probably damaging	Het
Myh7b	T	A	2: 155,618,740	L271Q	probably damaging	Het
Odf3l2	G	A	10: 79,642,691	P80S	probably benign	Het
Olfr1087	A	G	2: 86,690,822	V51A	probably benign	Het
Olfr61	T	C	7: 140,638,354	S218P	probably damaging	Het
Oog2	A	T	4: 144,195,342	H274L	probably benign	Het
Oosp1	A	C	19: 11,668,410	S121R	probably benign	Het
Pepd	T	C	7: 35,021,772		probably null	Het
Pik3c2a	A	C	7: 116,405,943	S363R	probably benign	Het
Polr2b	T	C	5: 77,321,021	Y215H	probably benign	Het
Ppcdc	A	T	9: 57,414,675	V194E	probably benign	Het
Rabgap1l	A	C	1: 160,682,097	I470S	probably benign	Het
Scgb1b3	G	A	7: 31,375,958	A78T	probably benign	Het
Slc9a5	T	A	8: 105,356,713	L368Q	probably damaging	Het
Spef2	T	A	15: 9,647,490	I944F	possibly damaging	Het
Syne1	T	A	10: 5,256,805	H3461L	probably benign	Het
Tas2r134	A	G	2: 51,628,133	Y208C	probably benign	Het
Tm9sf3	G	A	19: 41,238,759	S291F	probably damaging	Het
Tra2a	G	A	6: 49,250,987	T69I	unknown	Het
Ube2q1	T	A	3: 89,776,591	L171Q	possibly damaging	Het
Ufd1	A	G	16: 18,817,965	T78A	probably damaging	Het
Vmn1r13	T	C	6: 57,210,602	S249P	probably damaging	Het
Wdr91	G	A	6: 34,884,323	S648L	probably benign	Het
Zfp51	T	A	17: 21,463,796	N224K	probably benign	Het

Other mutations in Lrguk

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00339:Lrguk	APN	6	34043429	missense	probably damaging	1.00
IGL00566:Lrguk	APN	6	34056174	missense	probably damaging	1.00
IGL01720:Lrguk	APN	6	34043477	missense	probably damaging	1.00
IGL02325:Lrguk	APN	6	34129179	missense	probably benign	0.31
IGL02484:Lrguk	APN	6	34092791	missense	probably damaging	1.00
IGL02493:Lrguk	APN	6	34129192	missense	probably benign	0.03
IGL02636:Lrguk	APN	6	34090188	missense	probably damaging	1.00
IGL03278:Lrguk	APN	6	34116446	missense	possibly damaging	0.80
R0031:Lrguk	UTSW	6	34043496	missense	probably damaging	0.99
R1069:Lrguk	UTSW	6	34048883	missense	possibly damaging	0.63
R1487:Lrguk	UTSW	6	34062360	missense	probably benign	0.01
R1568:Lrguk	UTSW	6	34086438	missense	probably damaging	1.00
R1604:Lrguk	UTSW	6	34072370	missense	possibly damaging	0.67
R1847:Lrguk	UTSW	6	34133387	missense	possibly damaging	0.52
R2045:Lrguk	UTSW	6	34071068	missense	probably damaging	1.00
R2107:Lrguk	UTSW	6	34062361	missense	probably benign	0.15
R2125:Lrguk	UTSW	6	34092902	missense	probably benign	0.05
R2136:Lrguk	UTSW	6	34043519	missense	probably benign	0.00
R2997:Lrguk	UTSW	6	34073762	missense	probably damaging	0.98
R3847:Lrguk	UTSW	6	34073768	missense	probably damaging	1.00
R3849:Lrguk	UTSW	6	34073768	missense	probably damaging	1.00
R4626:Lrguk	UTSW	6	34129223	missense	probably benign	0.00
R4718:Lrguk	UTSW	6	34029496	missense	probably benign	0.02
R4778:Lrguk	UTSW	6	34056080	missense	probably damaging	1.00
R4841:Lrguk	UTSW	6	34092867	missense	probably damaging	0.98
R5324:Lrguk	UTSW	6	34073797	missense	possibly damaging	0.87
R5450:Lrguk	UTSW	6	34071061	missense	probably damaging	1.00
R5741:Lrguk	UTSW	6	34048867	missense	probably damaging	0.99
R5939:Lrguk	UTSW	6	34078753	missense	probably damaging	1.00
R5997:Lrguk	UTSW	6	34129143	missense	probably damaging	0.99
R6786:Lrguk	UTSW	6	34095587	missense	probably benign	0.11
R6802:Lrguk	UTSW	6	34062457	missense	probably damaging	1.00
R7081:Lrguk	UTSW	6	34102139	missense	probably benign	0.01
R7316:Lrguk	UTSW	6	34103256	missense	unknown
R7473:Lrguk	UTSW	6	34029695	missense	probably benign	0.01
R7543:Lrguk	UTSW	6	34048935	nonsense	probably null
R7613:Lrguk	UTSW	6	34101748	missense	possibly damaging	0.68
R7716:Lrguk	UTSW	6	34095539	missense	probably damaging	1.00
R7900:Lrguk	UTSW	6	34129194	missense	probably benign	0.01
R8012:Lrguk	UTSW	6	34056103	missense	probably benign	0.00
R8251:Lrguk	UTSW	6	34116439	missense	probably benign	0.00
R8324:Lrguk	UTSW	6	34102571	missense	probably benign	0.03
R8551:Lrguk	UTSW	6	34116511	missense	probably damaging	0.96
R8828:Lrguk	UTSW	6	34103637	missense	unknown
R8879:Lrguk	UTSW	6	34029683	missense	probably benign	0.00
X0057:Lrguk	UTSW	6	34078747	missense	probably benign	0.40

Predicted Primers

PCR Primer
(F):5'- CTAGCCACTGAACGTAAAGAGG -3'
(R):5'- GGCACACCTCCAAATTCTGC -3'

Sequencing Primer
(F):5'- GAAAATAAAAGAAGCAGCAGAACGC -3'
(R):5'- TTCTGCCTCATGAGAGCGG -3'

Posted On

2019-06-26